P47L (p.Pro47Leu) variant of LHCGR (P22888)
P47L (p.Pro47Leu) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- Ensembl rs1572904980
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.31
- CADD 22.30
- PolyPhen-2 0.22
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available