L72R (p.Leu72Arg) variant of FSHR (P23945)
L72R (p.Leu72Arg) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L72R (p.Leu72Arg) variant details
- p.Leu72Arg
- ESP rs142755430
- ExAC rs142755430
- gnomAD rs142755430
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.93
- MetaLR 0.91
- MetaSVM 0.97
- CADD 29.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available