P23T (p.Pro23Thr) variant of ELN (Elastin)
P23T (p.Pro23Thr) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- gnomAD 7-74028254-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.44
- CADD 23.90
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available