G130D (p.Gly130Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G130D (p.Gly130Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
G130D (p.Gly130Asp) variant details
- p.Gly130Asp
- gnomAD rs1939623348
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.58
- CADD 21.90
- PolyPhen-2 0.96
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available