G964S (p.Gly964Ser) variant of ABCA3 (Q99758)
G964S (p.Gly964Ser) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G964S (p.Gly964Ser) variant details
- p.Gly964Ser
- rs141233327
- ClinGen CA7840677
- ClinVar RCV003559895
- ClinVar RCV005014773
- Pathogenic/Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.61
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available