N61S (p.Asn61Ser) variant of CA2 (Carbonic anhydrase 2)
N61S (p.Asn61Ser) in CA2 (Carbonic anhydrase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
N61S (p.Asn61Ser) variant details
- p.Asn61Ser
- TOPMed rs1485994749
- gnomAD rs1485994749
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.84
- MetaLR 0.75
- MetaSVM 0.78
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available