T98A (p.Thr98Ala) variant of OCA2 (P protein)
T98A (p.Thr98Ala) in OCA2 (P protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- rs1183314534
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- gnomAD rs1183314534
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.81
- MetaSVM 0.33
- CADD 24.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available