L72Q (p.Leu72Gln) variant of FSHR (P23945)
L72Q (p.Leu72Gln) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L72Q (p.Leu72Gln) variant details
- p.Leu72Gln
- cosmic curated COSV10516
- ESP rs142755430
- ExAC rs142755430
- gnomAD rs142755430
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.94
- MetaLR 0.91
- MetaSVM 0.97
- CADD 27.10
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available