V59A (p.Val59Ala) variant of SFTPB (P07988)
V59A (p.Val59Ala) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V59A (p.Val59Ala) variant details
- p.Val59Ala
- cosmic curated COSV10464
- gnomAD rs1407364935
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 0.64
- SIFT 0.27
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available