M128T (p.Met128Thr) variant of SLC25A20 (O43772)
M128T (p.Met128Thr) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
M128T (p.Met128Thr) variant details
- p.Met128Thr
- ExAC rs773117326
- gnomAD rs773117326
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.59
- MetaLR 0.20
- MetaSVM -0.82
- CADD 22.50
- PolyPhen-2 0.21
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available