V49V (p.Val49Val) variant of CA2 (Carbonic anhydrase 2)
V49V (p.Val49Val) in CA2 (Carbonic anhydrase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- rs747105608
- gnomAD 8-85465384-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0955
- CADD 2.10
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available