Q111H (p.Gln111His) variant of SFTPB (P07988)
Q111H (p.Gln111His) in SFTPB (P07988) is a missense change. 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.
Q111H (p.Gln111His) variant details
- p.Gln111His
- TOPMed rs1280741950
- gnomAD rs1280741950
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.21
- CADD 16.00
- PolyPhen-2 0.10
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available