N4H (p.Asn4His) variant of COL5A2 (Collagen alpha-2(V) chain)
N4H (p.Asn4His) in COL5A2 (Collagen alpha-2(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 0.39 / 1. The record also includes structural context.
N4H (p.Asn4His) variant details
- p.Asn4His
- rs1426460695
- ClinGen CA349986350
- ClinVar RCV001772735
- TOPMed rs1426460695
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.77
- PolyPhen-2 0.04
- SIFT 0.04
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available