P35R (p.Pro35Arg) variant of MCCC2 (Q9HCC0)
P35R (p.Pro35Arg) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- gnomAD 5-71587529-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.30
- CADD 13.40
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available