L11Q (p.Leu11Gln) variant of MCCC1 (Q96RQ3)
L11Q (p.Leu11Gln) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- ExAC rs778620637
- TOPMed rs778620637
- gnomAD rs778620637
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.57
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available