P13S (p.Pro13Ser) variant of CA2 (Carbonic anhydrase 2)
P13S (p.Pro13Ser) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- gnomAD 8-85465274-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.75
- MetaLR 0.86
- MetaSVM 0.96
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available