H24N (p.His24Asn) variant of MCCC2 (Q9HCC0)
H24N (p.His24Asn) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H24N (p.His24Asn) variant details
- p.His24Asn
- gnomAD 5-71587495-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.55
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available