M1I (p.Met1Ile) variant of ELN (Elastin)
M1I (p.Met1Ile) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1200284316
- gnomAD 7-74040001-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 11.60
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available