L37F (p.Leu37Phe) variant of MCCC2 (Q9HCC0)
L37F (p.Leu37Phe) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L37F (p.Leu37Phe) variant details
- p.Leu37Phe
- gnomAD 5-71587536-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.28
- CADD 17.40
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available