A24T (p.Ala24Thr) variant of SFTPB (P07988)
A24T (p.Ala24Thr) in SFTPB (P07988) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs925336255
- TOPMed rs925336255
- gnomAD rs925336255
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.03
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available