I6V (p.Ile6Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
I6V (p.Ile6Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- rs763492958
- ClinGen CA2145869
- ClinVar RCV003155732
- ExAC rs763492958
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0905
- REVEL 0.12
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs16823264)
- UniProt: Uncertain significance (in dbSNP:rs16823264)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available