S81A (p.Ser81Ala) variant of LHCGR (P22888)
S81A (p.Ser81Ala) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S81A (p.Ser81Ala) variant details
- p.Ser81Ala
- TOPMed rs1381039031
- gnomAD rs1381039031
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.58
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available