L30F (p.Leu30Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
L30F (p.Leu30Phe) 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 Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- rs758174051
- ClinGen CA2145811
- NCI-TCGA Cosmic COSV1043
- ClinVar RCV001138180
- Uncertain significance
- Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.13
- CADD 3.27
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Uncertain significance (Alport syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available