I6T (p.Ile6Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
I6T (p.Ile6Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- rs16823264
- ClinGen CA2145868
- ClinVar RCV000248898
- ClinVar RCV000286526
- Benign/Likely benign
- not specified; not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.17
- CADD 0.89
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Benign/Likely benign (not specified; not provided; Alport syndrome)
- EBI: Benign (in dbSNP:rs16823264)
- UniProt: Benign (in dbSNP:rs16823264)
- Most common in the HGDP:MANDENKA population (allele frequency 0.53)
- Structural context available
- Cited in: Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria. (PMID 11961012)