A9P (p.Ala9Pro) variant of COL4A5 (Collagen alpha-5(IV) chain)
A9P (p.Ala9Pro) in COL4A5 (Collagen alpha-5(IV) chain) 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 and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD rs1199972451
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.45
- MetaLR 0.53
- MetaSVM -0.30
- CADD 23.70
- PolyPhen-2 0.69
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available