P40A (p.Pro40Ala) variant of HOGA1 (Q86XE5)
P40A (p.Pro40Ala) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- 1000Genomes rs202016288
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.87
- MetaSVM 0.76
- CADD 24.40
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available