A23D (p.Ala23Asp) variant of SFTPB (P07988)
A23D (p.Ala23Asp) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD rs1403793073
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.26
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available