R50I (p.Arg50Ile) variant of SFTPB (P07988)
R50I (p.Arg50Ile) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R50I (p.Arg50Ile) variant details
- p.Arg50Ile
- rs749043722
- ClinGen CA1744174
- ClinVar RCV002585380
- ExAC rs749043722
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.27
- CADD 21.40
- PolyPhen-2 0.66
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available