G75A (p.Gly75Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
G75A (p.Gly75Ala) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.69 / 1. The record also includes population frequency data and structural context.
G75A (p.Gly75Ala) variant details
- p.Gly75Ala
- 1000Genomes rs200665579
- ESP rs200665579
- ExAC rs200665579
- TOPMed rs200665579
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.65
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.11
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available