M128V (p.Met128Val) variant of SLC25A20 (O43772)
M128V (p.Met128Val) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
M128V (p.Met128Val) variant details
- p.Met128Val
- gnomAD rs1480899393
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.61
- MetaLR 0.26
- MetaSVM -0.73
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.28
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available