F120L (p.Phe120Leu) variant of SFTPB (P07988)
F120L (p.Phe120Leu) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
F120L (p.Phe120Leu) variant details
- p.Phe120Leu
- rs138729391
- ClinGen CA1744088
- ClinVar RCV003815103
- ESP rs138729391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.11
- CADD 8.64
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available