V29I (p.Val29Ile) variant of KRT18 (Keratin, type I cytoskeletal 18)
V29I (p.Val29Ile) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- gnomAD rs1465913307
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.10
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available