R27L (p.Arg27Leu) variant of CA2 (Carbonic anhydrase 2)
R27L (p.Arg27Leu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- ExAC rs765669662
- TOPMed rs765669662
- gnomAD rs765669662
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.56
- MetaLR 0.43
- MetaSVM -0.17
- CADD 26.40
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available