K106R (p.Lys106Arg) variant of SFTPB (P07988)
K106R (p.Lys106Arg) in SFTPB (P07988) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
K106R (p.Lys106Arg) variant details
- p.Lys106Arg
- TOPMed rs1677663668
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.47
- CADD 23.40
- PolyPhen-2 0.49
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available