G101D (p.Gly101Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G101D (p.Gly101Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G101D (p.Gly101Asp) variant details
- p.Gly101Asp
- 1000Genomes rs147840212
- ESP rs147840212
- ExAC rs147840212
- TOPMed rs147840212
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.45
- CADD 19.20
- PolyPhen-2 0.80
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available