A24S (p.Ala24Ser) variant of SFTPB (P07988)
A24S (p.Ala24Ser) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- TOPMed rs925336255
- gnomAD rs925336255
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- CADD 12.70
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available