M38I (p.Met38Ile) variant of CSRP3 (P50461)
M38I (p.Met38Ile) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- ExAC rs769986102
- TOPMed rs769986102
- gnomAD rs769986102
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available