R41W (p.Arg41Trp) variant of SHANK1 (Q9Y566)
R41W (p.Arg41Trp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- cosmic curated COSV99522
- ExAC rs746568579
- gnomAD rs746568579
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.23
- MetaLR 0.12
- MetaSVM -0.81
- CADD 28.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available