M128I (p.Met128Ile) variant of SLC25A20 (O43772)
M128I (p.Met128Ile) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
M128I (p.Met128Ile) variant details
- p.Met128Ile
- Ensembl rs2083783752
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.70
- MetaLR 0.44
- MetaSVM -0.35
- CADD 25.70
- PolyPhen-2 0.62
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available