T52N (p.Thr52Asn) variant of LHCGR (P22888)
T52N (p.Thr52Asn) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T52N (p.Thr52Asn) variant details
- p.Thr52Asn
- TOPMed rs984685388
- gnomAD rs984685388
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.13
- CADD 15.80
- PolyPhen-2 0.20
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available