G109V (p.Gly109Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G109V (p.Gly109Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes population frequency data and structural context.
G109V (p.Gly109Val) variant details
- p.Gly109Val
- ExAC rs766378801
- TOPMed rs766378801
- gnomAD rs766378801
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.28
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available