E27V (p.Glu27Val) variant of LHCGR (P22888)
E27V (p.Glu27Val) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- TOPMed rs1216217393
- gnomAD rs1216217393
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.09
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available