M9K (p.Met9Lys) variant of COL4A4 (Collagen alpha-4(IV) chain)
M9K (p.Met9Lys) 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 Benign familial hematuria; Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
M9K (p.Met9Lys) variant details
- p.Met9Lys
- rs1440047357
- ClinGen CA350842844
- ClinVar RCV001946526
- ClinVar RCV006257009
- Uncertain significance
- Benign familial hematuria; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.27
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.61
- CADD 1.44
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Benign familial hematuria; Autosomal recessive Alport syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)