F120S (p.Phe120Ser) variant of SFTPB (P07988)
F120S (p.Phe120Ser) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F120S (p.Phe120Ser) variant details
- p.Phe120Ser
- TOPMed rs1401046724
- gnomAD rs1401046724
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.68
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available