F11V (p.Phe11Val) variant of FSHR (P23945)
F11V (p.Phe11Val) in FSHR (P23945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
F11V (p.Phe11Val) variant details
- p.Phe11Val
- rs551113676
- ClinGen CA1654154
- ClinVar RCV003001037
- ClinVar RCV004736295
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -1.05
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.04)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)