V63M (p.Val63Met) variant of SFTPB (P07988)
V63M (p.Val63Met) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V63M (p.Val63Met) variant details
- p.Val63Met
- ExAC rs780804657
- TOPMed rs780804657
- gnomAD rs780804657
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.14
- CADD 17.50
- PolyPhen-2 0.44
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available