G71A (p.Gly71Ala) variant of KRT16 (Keratin, type I cytoskeletal 16)
G71A (p.Gly71Ala) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.26 / 1. The record also includes population frequency data and structural context.
G71A (p.Gly71Ala) variant details
- p.Gly71Ala
- rs144088254
- ClinGen CA8563313
- ClinVar RCV000957965
- 1000Genomes rs144088254
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available