L38F (p.Leu38Phe) variant of OCA2 (P protein)
L38F (p.Leu38Phe) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- TOPMed rs1426918298
- gnomAD rs1426918298
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.34
- CADD 3.20
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available