G71S (p.Gly71Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G71S (p.Gly71Ser) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.43 / 1. The record also includes population frequency data and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- rs556361680
- ClinGen CA8562780
- ClinVar RCV001969812
- 1000Genomes rs556361680
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.46
- CADD 20.20
- PolyPhen-2 0.07
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available