L8F (p.Leu8Phe) variant of FSHR (P23945)
L8F (p.Leu8Phe) in FSHR (P23945) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- rs115030945
- ClinGen CA1654157
- ClinVar RCV000243176
- ClinVar RCV000314624
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.08
- MetaLR 0.20
- MetaSVM -0.90
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:KHV population (allele frequency 0.04)
- Structural context available