G52A (p.Gly52Ala) variant of KRT2 (P35908)
G52A (p.Gly52Ala) in KRT2 (P35908) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.37
- CADD 14.60
- PolyPhen-2 0.41
- SIFT 0.10
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available