E26Q (p.Glu26Gln) variant of CA2 (Carbonic anhydrase 2)
E26Q (p.Glu26Gln) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- gnomAD rs1334984459
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -1.01
- CADD 7.59
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available