R101T (p.Arg101Thr) variant of FSHR (P23945)
R101T (p.Arg101Thr) in FSHR (P23945) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R101T (p.Arg101Thr) variant details
- p.Arg101Thr
- NCI-TCGA Cosmic COSV5861
- cosmic curated COSV58617
- NCI-TCGA Cosmic COSV5863
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.37
- MetaLR 0.46
- MetaSVM -0.24
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.55
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available