L135V (p.Leu135Val) variant of SLC4A1 (Band 3 anion transport protein)
L135V (p.Leu135Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L135V (p.Leu135Val) variant details
- p.Leu135Val
- ExAC rs748601363
- gnomAD rs748601363
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.05
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available