G71S (p.Gly71Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
G71S (p.Gly71Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- 1000Genomes rs201431252
- ESP rs201431252
- ExAC rs201431252
- TOPMed rs201431252
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.18
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available