P2S (p.Pro2Ser) variant of CSRP3 (P50461)
P2S (p.Pro2Ser) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs2494229288
- ClinGen CA379888699
- ClinVar RCV002343042
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.27
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available