D26N (p.Asp26Asn) variant of MCCC2 (Q9HCC0)
D26N (p.Asp26Asn) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- gnomAD 5-71587501-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.53
- CADD 25.20
- PolyPhen-2 0.22
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available