F30S (p.Phe30Ser) variant of ABCA3 (Q99758)
F30S (p.Phe30Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- gnomAD rs1404114368
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.18
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.26
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available