T52P (p.Thr52Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
T52P (p.Thr52Pro) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T52P (p.Thr52Pro) variant details
- p.Thr52Pro
- gnomAD 12-52949327-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.44
- CADD 19.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available