P41L (p.Pro41Leu) variant of HOGA1 (Q86XE5)
P41L (p.Pro41Leu) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- gnomAD 10-97584825-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.94
- MetaSVM 1.09
- CADD 29.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available