R59Q (p.Arg59Gln) variant of FSHR (P23945)
R59Q (p.Arg59Gln) 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 0.19 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs867447724
- ClinGen CA47352743
- NCI-TCGA Cosmic COSV5861
- cosmic curated COSV58619
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.90
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available