P65R (p.Pro65Arg) variant of ELN (Elastin)
P65R (p.Pro65Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P65R (p.Pro65Arg) variant details
- p.Pro65Arg
- gnomAD 7-74037737-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available