E30K (p.Glu30Lys) variant of OCA2 (P protein)
E30K (p.Glu30Lys) 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.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- cosmic curated COSV10886
- ExAC rs770810288
- TOPMed rs770810288
- gnomAD rs770810288
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.56
- MetaSVM -0.42
- CADD 4.57
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available