G22R (p.Gly22Arg) variant of SHANK1 (Q9Y566)
G22R (p.Gly22Arg) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- cosmic curated COSV99035
- ExAC rs746931414
- gnomAD rs746931414
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- MetaLR 0.13
- MetaSVM -0.79
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available