N112H (p.Asn112His) variant of FSHR (P23945)
N112H (p.Asn112His) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N112H (p.Asn112His) variant details
- p.Asn112His
- ExAC rs201909194
- gnomAD rs201909194
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.23
- MetaLR 0.09
- MetaSVM -1.01
- CADD 16.70
- PolyPhen-2 0.02
- SIFT 0.35
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available