R127C (p.Arg127Cys) variant of SHANK1 (Q9Y566)
R127C (p.Arg127Cys) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R127C (p.Arg127Cys) variant details
- p.Arg127Cys
- cosmic curated COSV53263
- ExAC rs766287221
- TOPMed rs766287221
- gnomAD rs766287221
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.31
- MetaLR 0.11
- MetaSVM -0.99
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available