R150W (p.Arg150Trp) variant of KRT13 (Keratin, type I cytoskeletal 13)
R150W (p.Arg150Trp) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.41 / 1. The record also includes population frequency data and structural context.
R150W (p.Arg150Trp) variant details
- p.Arg150Trp
- cosmic curated COSV10801
- ExAC rs759629819
- TOPMed rs759629819
- gnomAD rs759629819
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.41
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available