T52I (p.Thr52Ile) variant of LHCGR (P22888)
T52I (p.Thr52Ile) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- TOPMed rs984685388
- gnomAD rs984685388
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.28
- CADD 17.20
- PolyPhen-2 0.20
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available