P17R (p.Pro17Arg) variant of MCCC2 (Q9HCC0)
P17R (p.Pro17Arg) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- gnomAD 5-71587475-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.22
- CADD 4.78
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available