L14P (p.Leu14Pro) variant of H6PD (O95479)
L14P (p.Leu14Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD rs1482255069
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.62
- MetaLR 0.86
- MetaSVM 0.66
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available