A83S (p.Ala83Ser) variant of SFTPB (P07988)
A83S (p.Ala83Ser) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A83S (p.Ala83Ser) variant details
- p.Ala83Ser
- 1000Genomes rs573709240
- ExAC rs573709240
- gnomAD rs573709240
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.45
- CADD 18.70
- PolyPhen-2 0.46
- SIFT 0.21
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available