H10N (p.His10Asn) variant of CA2 (Carbonic anhydrase 2)
H10N (p.His10Asn) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H10N (p.His10Asn) variant details
- p.His10Asn
- gnomAD 8-85464109-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.05
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available