W16G (p.Trp16Gly) variant of CA2 (Carbonic anhydrase 2)
W16G (p.Trp16Gly) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W16G (p.Trp16Gly) variant details
- p.Trp16Gly
- gnomAD 8-85465283-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available