K106E (p.Lys106Glu) variant of SFTPB (P07988)
K106E (p.Lys106Glu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K106E (p.Lys106Glu) variant details
- p.Lys106Glu
- TOPMed rs1349297564
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.43
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available