L108F (p.Leu108Phe) variant of SFTPB (P07988)
L108F (p.Leu108Phe) in SFTPB (P07988) is a missense change. 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.
L108F (p.Leu108Phe) variant details
- p.Leu108Phe
- cosmic curated COSV60893
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.27
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available