R21Q (p.Arg21Gln) variant of FSHR (P23945)
R21Q (p.Arg21Gln) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R21Q (p.Arg21Gln) variant details
- p.Arg21Gln
- rs767492233
- ClinGen CA1654150
- cosmic curated COSV58626
- ClinVar RCV003286079
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.24
- MetaLR 0.71
- MetaSVM -0.15
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- 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)