G135V (p.Gly135Val) variant of SFTPB (P07988)
G135V (p.Gly135Val) 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 0.20 / 1. The record also includes population frequency data and structural context.
G135V (p.Gly135Val) variant details
- p.Gly135Val
- rs1289542876
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- gnomAD rs1289542876
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.17
- CADD 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available