S17N (p.Ser17Asn) variant of HOGA1 (Q86XE5)
S17N (p.Ser17Asn) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- ExAC rs779935047
- gnomAD rs779935047
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.58
- MetaSVM -0.33
- CADD 4.59
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available