G112D (p.Gly112Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G112D (p.Gly112Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G112D (p.Gly112Asp) variant details
- p.Gly112Asp
- gnomAD rs1269405940
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.35
- CADD 14.70
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available