C112G (p.Cys112Gly) variant of SFTPB (P07988)
C112G (p.Cys112Gly) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
C112G (p.Cys112Gly) variant details
- p.Cys112Gly
- TOPMed rs1224230169
- gnomAD rs1224230169
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.79
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available