I8V (p.Ile8Val) variant of SLC25A20 (O43772)
I8V (p.Ile8Val) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- TOPMed rs1241000862
- gnomAD rs1241000862
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.30
- MetaLR 0.38
- MetaSVM -0.50
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.72
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available