D81N (p.Asp81Asn) variant of FSHR (P23945)
D81N (p.Asp81Asn) 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 0.54 / 1. The record also includes population frequency data and structural context.
D81N (p.Asp81Asn) variant details
- p.Asp81Asn
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58621
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.37
- MetaLR 0.62
- MetaSVM 0.19
- CADD 24.50
- PolyPhen-2 0.82
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available