Y51H (p.Tyr51His) variant of CA2 (Carbonic anhydrase 2)
Y51H (p.Tyr51His) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y51H (p.Tyr51His) variant details
- p.Tyr51His
- ExAC rs773780542
- gnomAD rs773780542
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.84
- MetaLR 0.82
- MetaSVM 0.88
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available