L5P (p.Leu5Pro) variant of MCCC2 (Q9HCC0)
L5P (p.Leu5Pro) 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.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD 5-71587439-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.43
- CADD 16.20
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available