I86T (p.Ile86Thr) variant of FSHR (P23945)
I86T (p.Ile86Thr) in FSHR (P23945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I86T (p.Ile86Thr) variant details
- p.Ile86Thr
- rs750246214
- ClinGen CA1654053
- ClinVar RCV002946974
- ExAC rs750246214
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.74
- MetaLR 0.67
- MetaSVM 0.34
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- 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)