I78V (p.Ile78Val) variant of LHCGR (P22888)
I78V (p.Ile78Val) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- rs751703778
- ClinGen CA1653424
- ClinVar RCV004414976
- ExAC rs751703778
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.55
- CADD 29.20
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)