R10H (p.Arg10His) variant of ELN (Elastin)
R10H (p.Arg10His) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- rs376512299
- gnomAD 7-74037708-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0812
- CADD 0.08
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Literature evidence available