V97M (p.Val97Met) variant of ABCA3 (Q99758)
V97M (p.Val97Met) in ABCA3 (Q99758) is a missense change. 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.
V97M (p.Val97Met) variant details
- p.Val97Met
- ExAC rs748192749
- gnomAD rs748192749
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.30
- CADD 19.10
- PolyPhen-2 0.51
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available