P67S (p.Pro67Ser) variant of ELN (Elastin)
P67S (p.Pro67Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- gnomAD 7-74041218-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.06
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available