K35E (p.Lys35Glu) variant of OCA2 (P protein)
K35E (p.Lys35Glu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- ExAC rs749561420
- gnomAD rs749561420
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.53
- MetaSVM -0.48
- CADD 1.42
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available