R13C (p.Arg13Cys) variant of SHANK1 (Q9Y566)
R13C (p.Arg13Cys) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- cosmic curated COSV53252
- ExAC rs767848654
- TOPMed rs767848654
- gnomAD rs767848654
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.10
- CADD 24.90
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available