H4Q (p.His4Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
H4Q (p.His4Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- rs368818087
- ClinGen CA375443779
- ClinVar RCV001355969
- 1000Genomes rs368818087
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.35
- CADD 21.00
- PolyPhen-2 0.23
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.2e-05)
- Structural context available