P45Q (p.Pro45Gln) variant of FSHR (P23945)
P45Q (p.Pro45Gln) 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 0.85 / 1. The record also includes population frequency data and structural context.
P45Q (p.Pro45Gln) variant details
- p.Pro45Gln
- NCI-TCGA Cosmic COSV5863
- cosmic curated COSV58634
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.87
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available