F30S (p.Phe30Ser) variant of CSRP3 (P50461)
F30S (p.Phe30Ser) 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 0.78 / 1. The record also includes population frequency data and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- rs1184610308
- ClinGen CA379888518
- ClinVar RCV002224491
- gnomAD rs1184610308
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available