T73A (p.Thr73Ala) variant of OCA2 (P protein)
T73A (p.Thr73Ala) 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 0.23 / 1. The record also includes population frequency data and structural context.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- rs2141895947
- ClinGen CA391366534
- ClinVar RCV002023456
- Ensembl rs2141895947
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.49
- MetaSVM -0.37
- CADD 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available