E14D (p.Glu14Asp) variant of CA2 (Carbonic anhydrase 2)
E14D (p.Glu14Asp) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 8-85465279-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.04
- CADD 2.38
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available