R36P (p.Arg36Pro) variant of OCA2 (P protein)
R36P (p.Arg36Pro) 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 population frequency data and structural context.
R36P (p.Arg36Pro) variant details
- p.Arg36Pro
- ESP rs143429491
- ExAC rs143429491
- TOPMed rs143429491
- gnomAD rs143429491
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.42
- CADD 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available