M1T (p.Met1Thr) variant of KRT17 (Keratin, type I cytoskeletal 17)
M1T (p.Met1Thr) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs760546497
- ClinGen CA8563889
- ClinVar RCV002580486
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- MetaLR 0.43
- MetaSVM -0.08
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.96
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available