G55A (p.Gly55Ala) variant of KRT8 (Keratin, type II cytoskeletal 8)
G55A (p.Gly55Ala) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
G55A (p.Gly55Ala) variant details
- p.Gly55Ala
- rs57282588
- ClinGen CA217262
- cosmic curated COSV53176
- ClinVar RCV000056937
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 2.51
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Most common in the 1KG:CLM population (allele frequency 0.0053)