K119R (p.Lys119Arg) variant of ADNP (Q9H2P0)
K119R (p.Lys119Arg) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K119R (p.Lys119Arg) variant details
- p.Lys119Arg
- rs182284347
- ClinGen CA9908901
- cosmic curated COSV10610
- ClinVar RCV001265426
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.017)
- Structural context available
- 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)