V64A (p.Val64Ala) variant of SHANK1 (Q9Y566)
V64A (p.Val64Ala) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.09
- CADD 21.60
- PolyPhen-2 0.44
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available