R28G (p.Arg28Gly) variant of CSRP3 (P50461)
R28G (p.Arg28Gly) in CSRP3 (P50461) 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 0.51 / 1. The record also includes population frequency data and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs2494229022
- ClinGen CA379888534
- ClinVar RCV003231754
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available