L121V (p.Leu121Val) variant of SLC4A1 (Band 3 anion transport protein)
L121V (p.Leu121Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L121V (p.Leu121Val) variant details
- p.Leu121Val
- TOPMed rs1442706372
- gnomAD rs1442706372
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.55
- CADD 23.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available