L68V (p.Leu68Val) variant of SFTPB (P07988)
L68V (p.Leu68Val) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L68V (p.Leu68Val) variant details
- p.Leu68Val
- TOPMed rs1329909080
- gnomAD rs1329909080
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.49
- CADD 23.00
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available