P23S (p.Pro23Ser) variant of ELN (Elastin)
P23S (p.Pro23Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- gnomAD 7-74028254-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available