K914R (p.Lys914Arg) variant of ABCA3 (Q99758)
K914R (p.Lys914Arg) 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 0.83 / 1. The record also includes population frequency data and structural context.
K914R (p.Lys914Arg) variant details
- p.Lys914Arg
- rs763862811
- ClinGen CA276825063
- ClinVar RCV003332035
- ClinVar RCV003561310
- Pathogenic/Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available