G111D (p.Gly111Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G111D (p.Gly111Asp) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.69 / 1. The record also includes population frequency data and structural context.
G111D (p.Gly111Asp) variant details
- p.Gly111Asp
- rs681063
- ClinGen CA6582298
- ClinVar RCV001598427
- UniProt VAR 035030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.69
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs681063)
- UniProt: Uncertain significance (in dbSNP:rs681063)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available