P72S (p.Pro72Ser) variant of ABCA3 (Q99758)
P72S (p.Pro72Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- TOPMed rs1463443074
- gnomAD rs1463443074
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.28
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available