G44A (p.Gly44Ala) variant of KRT3 (Keratin, type II cytoskeletal 3)
G44A (p.Gly44Ala) in KRT3 (Keratin, type II cytoskeletal 3) 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 0.36 / 1. The record also includes population frequency data and structural context.
G44A (p.Gly44Ala) variant details
- p.Gly44Ala
- rs28721426
- ClinGen CA6588297
- ClinVar RCV002173527
- UniProt VAR 061297
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.26
- CADD 16.30
- PolyPhen-2 0.89
- SIFT 0.20
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs28721426)
- UniProt: Benign (in dbSNP:rs28721426)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available