L13P (p.Leu13Pro) variant of SFTPB (P07988)
L13P (p.Leu13Pro) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- TOPMed rs909160441
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.69
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available