T101N (p.Thr101Asn) variant of KRT13 (Keratin, type I cytoskeletal 13)
T101N (p.Thr101Asn) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T101N (p.Thr101Asn) variant details
- p.Thr101Asn
- TOPMed rs1285245754
- gnomAD rs1285245754
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available