P13L (p.Pro13Leu) variant of CA2 (Carbonic anhydrase 2)
P13L (p.Pro13Leu) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- ExAC rs774046204
- gnomAD rs774046204
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.77
- MetaLR 0.90
- MetaSVM 1.07
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available