A37G (p.Ala37Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
A37G (p.Ala37Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A37G (p.Ala37Gly) variant details
- p.Ala37Gly
- gnomAD rs1319072747
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.30
- CADD 23.60
- PolyPhen-2 0.51
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available