D34G (p.Asp34Gly) variant of CA2 (Carbonic anhydrase 2)
D34G (p.Asp34Gly) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- gnomAD 8-85465338-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.84
- CADD 17.80
- PolyPhen-2 0.29
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available