D96N (p.Asp96Asn) variant of COL4A4 (Collagen alpha-4(IV) chain)
D96N (p.Asp96Asn) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
D96N (p.Asp96Asn) variant details
- p.Asp96Asn
- ExAC rs772710366
- gnomAD rs772710366
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.72
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available