T91K (p.Thr91Lys) variant of SFTPB (P07988)
T91K (p.Thr91Lys) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T91K (p.Thr91Lys) variant details
- p.Thr91Lys
- rs45488101
- ClinGen CA1744105
- ClinVar RCV003559025
- 1000Genomes rs45488101
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.37
- CADD 0.23
- PolyPhen-2 0.14
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available