A54V (p.Ala54Val) variant of ABCA3 (Q99758)
A54V (p.Ala54Val) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs759790104
- ClinGen CA7841770
- ClinVar RCV001768290
- ExAC rs759790104
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.38
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available