G18S (p.Gly18Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
G18S (p.Gly18Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- gnomAD rs1939964030
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.18
- CADD 6.25
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available