T131S (p.Thr131Ser) variant of SFTPB (P07988)
T131S (p.Thr131Ser) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
T131S (p.Thr131Ser) variant details
- p.Thr131Ser
- 1000Genomes rs1130866
- ESP rs1130866
- ExAC rs1130866
- TOPMed rs1130866
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.01
- EBI: Benign (in dbSNP:rs1130866)
- UniProt: Benign (in dbSNP:rs1130866)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available