L47P (p.Leu47Pro) variant of CA2 (Carbonic anhydrase 2)
L47P (p.Leu47Pro) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- Ensembl rs1177461216
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.85
- MetaLR 0.64
- MetaSVM 0.54
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available