P121T (p.Pro121Thr) variant of SFTPB (P07988)
P121T (p.Pro121Thr) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P121T (p.Pro121Thr) variant details
- p.Pro121Thr
- ExAC rs141905538
- TOPMed rs141905538
- gnomAD rs141905538
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.44
- CADD 20.90
- PolyPhen-2 0.51
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available