L14V (p.Leu14Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
L14V (p.Leu14Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs760570519
- ClinGen CA334149967
- ClinVar RCV001195225
- ClinVar RCV001828607
- Uncertain significance
- not specified; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.20
- MetaLR 0.39
- MetaSVM -0.66
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (not specified; X-linked Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)