T2A (p.Thr2Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
T2A (p.Thr2Ala) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- ExAC rs765738033
- gnomAD rs765738033
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.17
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available