P45L (p.Pro45Leu) variant of LHCGR (P22888)
P45L (p.Pro45Leu) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- TOPMed rs1670168989
- gnomAD rs1670168989
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available