M14T (p.Met14Thr) variant of KRT16 (Keratin, type I cytoskeletal 16)
M14T (p.Met14Thr) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M14T (p.Met14Thr) variant details
- p.Met14Thr
- TOPMed rs1343775716
- gnomAD rs1343775716
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available