M1K (p.Met1Lys) variant of ELN (Elastin)
M1K (p.Met1Lys) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1258630290
- gnomAD 7-74040000-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.43
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available