G72D (p.Gly72Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G72D (p.Gly72Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- rs1216084977
- TOPMed rs1216084977
- gnomAD rs1216084977
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available