I52V (p.Ile52Val) variant of SLC25A14 (O95258)
I52V (p.Ile52Val) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- gnomAD X-130345260-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.06
- MetaLR 0.20
- MetaSVM -0.87
- CADD 18.40
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available