H19L (p.His19Leu) variant of FSHR (P23945)
H19L (p.His19Leu) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H19L (p.His19Leu) variant details
- p.His19Leu
- gnomAD rs561684198
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.57
- MetaLR 0.77
- MetaSVM 0.38
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available