S42P (p.Ser42Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
S42P (p.Ser42Pro) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- ExAC rs770250195
- gnomAD rs770250195
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.55
- CADD 22.30
- PolyPhen-2 0.13
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available