A19V (p.Ala19Val) variant of SLC25A14 (O95258)
A19V (p.Ala19Val) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs1370693804
- gnomAD rs1370693804
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.46
- MetaSVM -0.37
- CADD 24.40
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available