T51A (p.Thr51Ala) variant of KRT17 (Keratin, type I cytoskeletal 17)
T51A (p.Thr51Ala) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T51A (p.Thr51Ala) variant details
- p.Thr51Ala
- 1000Genomes rs201047424
- ExAC rs201047424
- TOPMed rs201047424
- gnomAD rs201047424
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- CADD 1.81
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available