L31V (p.Leu31Val) variant of SLC25A20 (O43772)
L31V (p.Leu31Val) 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 0.60 / 1. The record also includes population frequency data and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10003
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.72
- MetaLR 0.69
- MetaSVM 0.33
- CADD 25.50
- PolyPhen-2 0.86
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available