F38L (p.Phe38Leu) variant of SFTPB (P07988)
F38L (p.Phe38Leu) 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 0.46 / 1. The record also includes population frequency data and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- cosmic curated COSV60893
- gnomAD rs1195184532
- NCI-TCGA Cosmic COSV6089
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.39
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available