F66V (p.Phe66Val) variant of CA2 (Carbonic anhydrase 2)
F66V (p.Phe66Val) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F66V (p.Phe66Val) variant details
- p.Phe66Val
- TOPMed rs1811614227
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.37
- MetaLR 0.12
- MetaSVM -0.99
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available