R21P (p.Arg21Pro) variant of MCCC2 (Q9HCC0)
R21P (p.Arg21Pro) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R21P (p.Arg21Pro) variant details
- p.Arg21Pro
- gnomAD 5-71587487-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.67
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available