R20K (p.Arg20Lys) variant of HOGA1 (Q86XE5)
R20K (p.Arg20Lys) 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, published literature, and structural context.
R20K (p.Arg20Lys) variant details
- p.Arg20Lys
- gnomAD 10-97584762-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.19
- ESM-1b 0.34
- AlphaMissense 0.11
- MetaLR 0.62
- MetaSVM -0.25
- CADD 11.65
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available