P71L (p.Pro71Leu) variant of MECOM (Q03112)
P71L (p.Pro71Leu) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- TOPMed rs1195556096
- gnomAD rs1195556096
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 0.0001)