R93K (p.Arg93Lys) variant of SFTPB (P07988)
R93K (p.Arg93Lys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R93K (p.Arg93Lys) variant details
- p.Arg93Lys
- TOPMed rs1677667354
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 1.12
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available