L22P (p.Leu22Pro) variant of MCCC1 (Q96RQ3)
L22P (p.Leu22Pro) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- TOPMed rs1718986032
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available