V17I (p.Val17Ile) variant of CDH1 (Cadherin-1)
V17I (p.Val17Ile) in CDH1 (Cadherin-1) 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, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs375035740
- gnomAD 19-3523029-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.94
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available