A65E (p.Ala65Glu) variant of FSHR (P23945)
A65E (p.Ala65Glu) 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 0.72 / 1. The record also includes population frequency data and structural context.
A65E (p.Ala65Glu) variant details
- p.Ala65Glu
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58621
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.81
- MetaLR 0.73
- MetaSVM 0.60
- CADD 27.20
- PolyPhen-2 0.84
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available