A81D (p.Ala81Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
A81D (p.Ala81Asp) in COL4A4 (Collagen alpha-4(IV) 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 0.16 / 1. The record also includes population frequency data and structural context.
A81D (p.Ala81Asp) variant details
- p.Ala81Asp
- rs747022394
- ClinGen CA2145734
- ClinVar RCV001772497
- ExAC rs747022394
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.13
- CADD 8.54
- PolyPhen-2 0.07
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available