P45S (p.Pro45Ser) variant of FSHR (P23945)
P45S (p.Pro45Ser) 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 0.81 / 1. The record also includes population frequency data and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- rs1463482771
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10043
- gnomAD rs1463482771
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.84
- MetaLR 0.97
- MetaSVM 1.07
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available