P68A (p.Pro68Ala) variant of HOGA1 (Q86XE5)
P68A (p.Pro68Ala) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P68A (p.Pro68Ala) variant details
- p.Pro68Ala
- gnomAD 10-97584905-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.91
- MetaSVM 0.99
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available