P36A (p.Pro36Ala) variant of UNC80 (Protein unc-80 homolog)
P36A (p.Pro36Ala) in UNC80 (Protein unc-80 homolog) 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 0.35 / 1. The record also includes structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- rs2153824389
- ClinGen CA350124592
- ClinVar RCV001983741
- Ensembl rs2153824389
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.93
- MetaLR 0.15
- MetaSVM -0.95
- PolyPhen-2 1.00
- SIFT 0.13
- MutPred 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available