P32R (p.Pro32Arg) variant of TUBB3 (Tubulin beta-3 chain)
P32R (p.Pro32Arg) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- rs767364590
- ClinGen CA8255940
- ClinVar RCV003988562
- ExAC rs767364590
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.52
- CADD 25.20
- PolyPhen-2 0.44
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available