M76L (p.Met76Leu) variant of SLC4A1 (Band 3 anion transport protein)
M76L (p.Met76Leu) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M76L (p.Met76Leu) variant details
- p.Met76Leu
- ExAC rs752316872
- TOPMed rs752316872
- gnomAD rs752316872
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.18
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available