L13P (p.Leu13Pro) variant of H6PD (O95479)
L13P (p.Leu13Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD rs1274194727
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.72
- MetaLR 0.90
- MetaSVM 0.92
- CADD 25.80
- PolyPhen-2 0.46
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available