I35V (p.Ile35Val) variant of ADNP (Q9H2P0)
I35V (p.Ile35Val) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; ADNP-related multiple congenital anomalie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- rs372633654
- ClinGen CA9908960
- ClinVar RCV002958000
- ClinVar RCV003340569
- Conflicting interpretations
- not provided; Inborn genetic diseases; ADNP-related multiple congenital anomalie
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; ADNP-related multiple con)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.235
- Cited in: ADNP-Related Helsmoortel-Van der Aa Syndrome. (PMID 27054228)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)