F127C (p.Phe127Cys) variant of SFTPB (P07988)
F127C (p.Phe127Cys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
F127C (p.Phe127Cys) variant details
- p.Phe127Cys
- gnomAD rs1677657202
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.59
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available