A6V (p.Ala6Val) variant of SHANK1 (Q9Y566)
A6V (p.Ala6Val) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs10423744
- cosmic curated COSV53247
- UniProt VAR 055318
- ExAC rs10423744
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.00
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available