G71D (p.Gly71Asp) variant of KRT16 (Keratin, type I cytoskeletal 16)
G71D (p.Gly71Asp) 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 0.35 / 1. The record also includes population frequency data and structural context.
G71D (p.Gly71Asp) variant details
- p.Gly71Asp
- 1000Genomes rs144088254
- ESP rs144088254
- ExAC rs144088254
- TOPMed rs144088254
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.26
- CADD 21.40
- PolyPhen-2 0.06
- SIFT 0.05
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available