P9S (p.Pro9Ser) variant of ELN (Elastin)
P9S (p.Pro9Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- gnomAD 7-74028212-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.19
- CADD 14.80
- PolyPhen-2 0.05
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available