P35Q (p.Pro35Gln) variant of MCCC2 (Q9HCC0)
P35Q (p.Pro35Gln) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P35Q (p.Pro35Gln) variant details
- p.Pro35Gln
- gnomAD 5-71587529-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.15
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available