L7S (p.Leu7Ser) variant of MCCC2 (Q9HCC0)
L7S (p.Leu7Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- gnomAD 5-71587445-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.31
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available