L22F (p.Leu22Phe) variant of MCCC1 (Q96RQ3)
L22F (p.Leu22Phe) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- gnomAD rs1490855504
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.34
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available