P40T (p.Pro40Thr) variant of HOGA1 (Q86XE5)
P40T (p.Pro40Thr) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- gnomAD 10-97584821-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.69
- ESM-1b 0.10
- AlphaMissense 0.44
- MetaLR 0.89
- MetaSVM 0.77
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available