V44A (p.Val44Ala) variant of CDH2 (Cadherin-2)
V44A (p.Val44Ala) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- ExAC rs774927665
- TOPMed rs774927665
- gnomAD rs774927665
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -1.06
- CADD 22.00
- PolyPhen-2 0.09
- SIFT 0.38
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available