W5R (p.Trp5Arg) variant of CA2 (Carbonic anhydrase 2)
W5R (p.Trp5Arg) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
W5R (p.Trp5Arg) variant details
- p.Trp5Arg
- Ensembl rs1184321968
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.65
- MetaLR 0.78
- MetaSVM 0.65
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available