A16T (p.Ala16Thr) variant of OCA2 (P protein)
A16T (p.Ala16Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs2044640419
- ClinGen CA391366859
- ClinVar RCV001093227
- Ensembl rs2044640419
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.45
- MetaSVM -0.38
- CADD 13.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available