P20Q (p.Pro20Gln) variant of LHCGR (P22888)
P20Q (p.Pro20Gln) in LHCGR (P22888) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- cosmic curated COSV54303
- TOPMed rs1558913693
- gnomAD rs1558913693
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.17
- CADD 4.34
- PolyPhen-2 0.12
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available