G47A (p.Gly47Ala) variant of KRT17 (Keratin, type I cytoskeletal 17)
G47A (p.Gly47Ala) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- rs759301828
- ClinGen CA399513407
- ClinVar RCV002302193
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.32
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available