G64R (p.Gly64Arg) variant of SFTPB (P07988)
G64R (p.Gly64Arg) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary pulmonary alveolar proteinosis; Surfactant metabolism d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G64R (p.Gly64Arg) variant details
- p.Gly64Arg
- rs148914290
- ClinGen CA1744168
- cosmic curated COSV60893
- ClinVar RCV000894695
- Conflicting interpretations
- not provided; Hereditary pulmonary alveolar proteinosis; Surfactant metabolism d
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.11
- CADD 15.80
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary pulmonary alveolar proteinosis; Surfact)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available