I13I (p.Ile13Ile) variant of CAV3 (Caveolin-3)
I13I (p.Ile13Ile) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I13I (p.Ile13Ile) variant details
- p.Ile13Ile
- rs200562715
- gnomAD 3-8733915-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.30
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)