P42L (p.Pro42Leu) variant of CA2 (Carbonic anhydrase 2)
P42L (p.Pro42Leu) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs1811612182
- ClinGen CA371424632
- ClinVar RCV002608193
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.16
- MetaLR 0.31
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.03
- EVE 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available