S60P (p.Ser60Pro) variant of OCA2 (P protein)
S60P (p.Ser60Pro) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
S60P (p.Ser60Pro) variant details
- p.Ser60Pro
- rs1482513844
- ClinGen CA391366618
- ClinVar RCV002039152
- gnomAD rs1482513844
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.42
- MetaSVM -0.60
- CADD 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available