S4L (p.Ser4Leu) variant of SFTPB (P07988)
S4L (p.Ser4Leu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- gnomAD rs1359858876
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.13
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available