G71V (p.Gly71Val) variant of KRT16 (Keratin, type I cytoskeletal 16)
G71V (p.Gly71Val) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G71V (p.Gly71Val) variant details
- p.Gly71Val
- 1000Genomes rs144088254
- ESP rs144088254
- ExAC rs144088254
- TOPMed rs144088254
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.21
- CADD 17.30
- PolyPhen-2 0.03
- SIFT 0.12
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available