P63L (p.Pro63Leu) variant of TUBA1A (Tubulin alpha-1A chain)
P63L (p.Pro63Leu) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; TUBA1A-associated tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- rs2121247772
- ClinGen CA384644871
- ClinVar RCV001843839
- ClinVar RCV003708620
- Conflicting interpretations
- not provided; TUBA1A-associated tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.74
- ClinVar: Conflicting classifications of pathogenicity (not provided; TUBA1A-associated tubulinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available