I6L (p.Ile6Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
I6L (p.Ile6Leu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I6L (p.Ile6Leu) variant details
- p.Ile6Leu
- ExAC rs763492958
- TOPMed rs763492958
- gnomAD rs763492958
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.23
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Variant of uncertain significance (in dbSNP:rs16823264)
- UniProt: Uncertain significance (in dbSNP:rs16823264)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available