V22L (p.Val22Leu) variant of SLC25A20 (O43772)
V22L (p.Val22Leu) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- Ensembl rs1559674116
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- MetaLR 0.29
- MetaSVM -0.75
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available