R13H (p.Arg13His) variant of SHANK1 (Q9Y566)
R13H (p.Arg13His) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- cosmic curated COSV53262
- 1000Genomes rs530590955
- ExAC rs530590955
- TOPMed rs530590955
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the 1KG:GIH population (allele frequency 0.015)
- Structural context available