Q130R (p.Gln130Arg) variant of SFTPB (P07988)
Q130R (p.Gln130Arg) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q130R (p.Gln130Arg) variant details
- p.Gln130Arg
- NCI-TCGA Cosmic COSV6089
- cosmic curated COSV60893
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.27
- CADD 23.90
- PolyPhen-2 0.61
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available