K108N (p.Lys108Asn) variant of OCA2 (P protein)
K108N (p.Lys108Asn) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K108N (p.Lys108Asn) variant details
- p.Lys108Asn
- gnomAD rs1403009794
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.51
- MetaSVM -0.63
- CADD 13.98
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available