P38T (p.Pro38Thr) variant of ELN (Elastin)
P38T (p.Pro38Thr) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P38T (p.Pro38Thr) variant details
- p.Pro38Thr
- gnomAD 7-74035393-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.39
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available