L88V (p.Leu88Val) variant of SLC4A1 (Band 3 anion transport protein)
L88V (p.Leu88Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L88V (p.Leu88Val) variant details
- p.Leu88Val
- gnomAD rs1457516456
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.19
- CADD 8.06
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available