C29F (p.Cys29Phe) variant of COL4A5 (Collagen alpha-5(IV) chain)
C29F (p.Cys29Phe) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
C29F (p.Cys29Phe) variant details
- p.Cys29Phe
- gnomAD rs1215962616
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.65
- MetaLR 0.67
- MetaSVM 0.51
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available