P118T (p.Pro118Thr) variant of OCA2 (P protein)
P118T (p.Pro118Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
P118T (p.Pro118Thr) variant details
- p.Pro118Thr
- rs2548495909
- ClinGen CA391362242
- ClinVar RCV002962914
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.66
- MetaSVM -0.11
- CADD 5.90
- 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