H22P (p.His22Pro) variant of ELN (Elastin)
H22P (p.His22Pro) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H22P (p.His22Pro) variant details
- p.His22Pro
- gnomAD 7-74028252-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.38
- CADD 24.80
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available