F88L (p.Phe88Leu) variant of SFTPB (P07988)
F88L (p.Phe88Leu) in SFTPB (P07988) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F88L (p.Phe88Leu) variant details
- p.Phe88Leu
- NCI-TCGA Cosmic COSV6089
- cosmic curated COSV60894
- Ensembl rs981012857
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.52
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available