P17T (p.Pro17Thr) variant of KRT8 (Keratin, type II cytoskeletal 8)
P17T (p.Pro17Thr) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- ExAC rs754652686
- gnomAD rs754652686
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)