N11N (p.Asn11Asn) variant of CA2 (Carbonic anhydrase 2)
N11N (p.Asn11Asn) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N11N (p.Asn11Asn) variant details
- p.Asn11Asn
- rs1011782856
- gnomAD 8-85464114-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 20.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available