A130T (p.Ala130Thr) variant of KRT13 (Keratin, type I cytoskeletal 13)
A130T (p.Ala130Thr) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- rs1047174279
- NCI-TCGA Cosmic COSV5584
- cosmic curated COSV55840
- TOPMed rs1047174279
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0719
- REVEL 0.07
- CADD 0.13
- PolyPhen-2 0.05
- SIFT 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available