A46S (p.Ala46Ser) variant of SFTPB (P07988)
A46S (p.Ala46Ser) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Surfactant metabolism dysfunction, pulmonary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- rs774179232
- ClinGen CA1744176
- cosmic curated COSV60893
- ClinVar RCV000377978
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available