G101A (p.Gly101Ala) variant of KRT1 (Keratin, type II cytoskeletal 1)
G101A (p.Gly101Ala) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.35 / 1. The record also includes population frequency data and structural context.
G101A (p.Gly101Ala) variant details
- p.Gly101Ala
- rs147840212
- ClinGen CA6586464
- ClinVar RCV003545299
- ClinVar RCV003966466
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.33
- CADD 7.18
- PolyPhen-2 0.06
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available