R37S (p.Arg37Ser) variant of OCA2 (P protein)
R37S (p.Arg37Ser) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- ExAC rs41309258
- gnomAD rs41309258
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM -0.39
- CADD 1.45
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available