V88A (p.Val88Ala) variant of SLC25A20 (O43772)
V88A (p.Val88Ala) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
V88A (p.Val88Ala) variant details
- p.Val88Ala
- TOPMed rs1361378026
- gnomAD rs1361378026
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.78
- MetaLR 0.42
- MetaSVM -0.12
- CADD 25.30
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available