L60R (p.Leu60Arg) variant of CA2 (Carbonic anhydrase 2)
L60R (p.Leu60Arg) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L60R (p.Leu60Arg) variant details
- p.Leu60Arg
- gnomAD 8-85465416-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.88
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available