R10Q (p.Arg10Gln) variant of MCCC2 (Q9HCC0)
R10Q (p.Arg10Gln) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- gnomAD 5-71587454-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.29
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available