H29Y (p.His29Tyr) variant of SLC25A20 (O43772)
H29Y (p.His29Tyr) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- Ensembl rs1330949538
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.74
- MetaLR 0.48
- MetaSVM -0.11
- CADD 25.20
- PolyPhen-2 0.52
- SIFT 0.47
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available