E71Q (p.Glu71Gln) variant of SFTPB (P07988)
E71Q (p.Glu71Gln) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E71Q (p.Glu71Gln) variant details
- p.Glu71Gln
- gnomAD rs1348659421
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- CADD 23.70
- PolyPhen-2 0.79
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available