G1421R (p.Gly1421Arg) variant of ABCA3 (Q99758)
G1421R (p.Gly1421Arg) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G1421R (p.Gly1421Arg) variant details
- p.Gly1421Arg
- cosmic curated COSV57056
- ExAC rs776453529
- TOPMed rs776453529
- gnomAD rs776453529
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.91
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available