L100F (p.Leu100Phe) variant of LHCGR (P22888)
L100F (p.Leu100Phe) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- ESP rs149199738
- ExAC rs149199738
- TOPMed rs149199738
- gnomAD rs149199738
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.81
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available