G113D (p.Gly113Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G113D (p.Gly113Asp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G113D (p.Gly113Asp) variant details
- p.Gly113Asp
- ExAC rs748044525
- TOPMed rs748044525
- gnomAD rs748044525
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.72
- CADD 22.40
- PolyPhen-2 0.53
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available