Q34R (p.Gln34Arg) variant of SFTPB (P07988)
Q34R (p.Gln34Arg) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- TOPMed rs922922988
- gnomAD rs922922988
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.03
- CADD 9.01
- PolyPhen-2 0.06
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available