H98Y (p.His98Tyr) variant of SLC4A1 (Band 3 anion transport protein)
H98Y (p.His98Tyr) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
H98Y (p.His98Tyr) variant details
- p.His98Tyr
- ExAC rs771281363
- gnomAD rs771281363
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.79
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available