Q57P (p.Gln57Pro) variant of SFTPB (P07988)
Q57P (p.Gln57Pro) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q57P (p.Gln57Pro) variant details
- p.Gln57Pro
- gnomAD rs1677724066
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available