V21L (p.Val21Leu) variant of SLC25A14 (O95258)
V21L (p.Val21Leu) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- TOPMed rs1166382619
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.42
- MetaSVM -0.54
- CADD 23.80
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available