N104D (p.Asn104Asp) variant of ABCA3 (Q99758)
N104D (p.Asn104Asp) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N104D (p.Asn104Asp) variant details
- p.Asn104Asp
- gnomAD rs1477041077
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- CADD 19.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available