I33S (p.Ile33Ser) variant of ELN (Elastin)
I33S (p.Ile33Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I33S (p.Ile33Ser) variant details
- p.Ile33Ser
- gnomAD 7-74035379-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available