R127H (p.Arg127His) variant of SHANK1 (Q9Y566)
R127H (p.Arg127His) 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 0.36 / 1. The record also includes population frequency data and structural context.
R127H (p.Arg127His) variant details
- p.Arg127His
- rs539761857
- 1000Genomes rs539761857
- ExAC rs539761857
- TOPMed rs539761857
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.16
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available