G120D (p.Gly120Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G120D (p.Gly120Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G120D (p.Gly120Asp) variant details
- p.Gly120Asp
- gnomAD rs1361549177
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.56
- CADD 22.10
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available