R60H (p.Arg60His) variant of SHANK1 (Q9Y566)
R60H (p.Arg60His) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R60H (p.Arg60His) variant details
- p.Arg60His
- rs376765376
- cosmic curated COSV99522
- ESP rs376765376
- ExAC rs376765376
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.01
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00023)
- Structural context available