T2N (p.Thr2Asn) variant of KRT17 (Keratin, type I cytoskeletal 17)
T2N (p.Thr2Asn) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T2N (p.Thr2Asn) variant details
- p.Thr2Asn
- gnomAD rs1234293016
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available