L11P (p.Leu11Pro) variant of MCCC1 (Q96RQ3)
L11P (p.Leu11Pro) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- ExAC rs778620637
- TOPMed rs778620637
- gnomAD rs778620637
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.62
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available