R14L (p.Arg14Leu) variant of MCCC2 (Q9HCC0)
R14L (p.Arg14Leu) 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.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- gnomAD 5-71587466-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available