L101P (p.Leu101Pro) variant of OCA2 (P protein)
L101P (p.Leu101Pro) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L101P (p.Leu101Pro) variant details
- p.Leu101Pro
- ExAC rs764104457
- gnomAD rs764104457
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.68
- ESM-1b 0.56
- AlphaMissense 0.30
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.80
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available