G53R (p.Gly53Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
G53R (p.Gly53Arg) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs748631498
- ClinGen CA399513326
- ClinVar RCV003878541
- ExAC rs748631498
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.32
- CADD 18.40
- PolyPhen-2 0.25
- SIFT 0.14
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available