P71L (p.Pro71Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
P71L (p.Pro71Leu) 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 provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- rs2065868609
- ClinGen CA413914785
- ClinVar RCV001730088
- ClinVar RCV002539785
- Uncertain significance
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.67
- MetaLR 0.88
- MetaSVM 0.90
- CADD 20.90
- PolyPhen-2 0.37
- SIFT 0.71
- ClinVar: Uncertain significance (not provided; X-linked Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)