D88N (p.Asp88Asn) variant of ABCA3 (Q99758)
D88N (p.Asp88Asn) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D88N (p.Asp88Asn) variant details
- p.Asp88Asn
- Ensembl rs2093733800
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.15
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available