I79V (p.Ile79Val) variant of SLC25A20 (O43772)
I79V (p.Ile79Val) in SLC25A20 (O43772) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I79V (p.Ile79Val) variant details
- p.Ile79Val
- rs771999740
- NCI-TCGA Cosmic COSV1000
- ExAC rs771999740
- TOPMed rs771999740
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.27
- MetaLR 0.26
- MetaSVM -0.73
- CADD 14.50
- PolyPhen-2 0.09
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available