A2G (p.Ala2Gly) variant of SFTPB (P07988)
A2G (p.Ala2Gly) 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.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- TOPMed rs1297321720
- gnomAD rs1297321720
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.15
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available