R122H (p.Arg122His) variant of KRT2 (P35908)
R122H (p.Arg122His) in KRT2 (P35908) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R122H (p.Arg122His) variant details
- p.Arg122His
- rs774545316
- NCI-TCGA Cosmic COSV9904
- ExAC rs774545316
- gnomAD rs774545316
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.26
- CADD 14.70
- PolyPhen-2 0.37
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available