E3K (p.Glu3Lys) variant of SFTPB (P07988)
E3K (p.Glu3Lys) 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 0.08 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- NCI-TCGA Cosmic COSV6089
- cosmic curated COSV60894
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0819
- REVEL 0.08
- CADD 0.32
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available