F42S (p.Phe42Ser) variant of ELN (Elastin)
F42S (p.Phe42Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F42S (p.Phe42Ser) variant details
- p.Phe42Ser
- rs368032676
- gnomAD 7-74041217-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 8.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available