H2N (p.His2Asn) variant of OCA2 (P protein)
H2N (p.His2Asn) 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 structural context.
H2N (p.His2Asn) variant details
- p.His2Asn
- ExAC rs781021505
- gnomAD rs781021505
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM -0.23
- CADD 20.10
- Structural context available