H19Q (p.His19Gln) variant of FSHR (P23945)
H19Q (p.His19Gln) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H19Q (p.His19Gln) variant details
- p.His19Gln
- gnomAD rs1233044588
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.40
- MetaLR 0.70
- MetaSVM 0.05
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available