S17R (p.Ser17Arg) variant of HOGA1 (Q86XE5)
S17R (p.Ser17Arg) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 10-97584754-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.65
- MetaSVM -0.20
- CADD 8.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available