P74S (p.Pro74Ser) variant of ABCA3 (Q99758)
P74S (p.Pro74Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P74S (p.Pro74Ser) variant details
- p.Pro74Ser
- TOPMed rs1314400451
- gnomAD rs1314400451
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.21
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available