R94C (p.Arg94Cys) variant of ADNP (Q9H2P0)
R94C (p.Arg94Cys) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R94C (p.Arg94Cys) variant details
- p.Arg94Cys
- rs1186714720
- ClinGen CA408979595
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10082
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 24.40
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ADNP-Related Helsmoortel-Van der Aa Syndrome. (PMID 27054228)