P12T (p.Pro12Thr) variant of OCA2 (P protein)
P12T (p.Pro12Thr) 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 0.19 / 1. The record also includes population frequency data and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- rs759852184
- ClinGen CA391366876
- ClinVar RCV002632497
- ExAC rs759852184
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.60
- CADD 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available