S7F (p.Ser7Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S7F (p.Ser7Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- ExAC rs775547844
- gnomAD rs775547844
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.62
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available