N11K (p.Asn11Lys) variant of CA2 (Carbonic anhydrase 2)
N11K (p.Asn11Lys) 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, published literature, and structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- gnomAD 8-85464114-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.74
- CADD 24.50
- PolyPhen-2 0.23
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available