A90V (p.Ala90Val) variant of SLC25A14 (O95258)
A90V (p.Ala90Val) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- cosmic curated COSV10804
- ExAC rs749809718
- gnomAD rs749809718
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.55
- MetaSVM -0.07
- CADD 24.20
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available