V63L (p.Val63Leu) variant of SFTPB (P07988)
V63L (p.Val63Leu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V63L (p.Val63Leu) variant details
- p.Val63Leu
- ExAC rs780804657
- TOPMed rs780804657
- gnomAD rs780804657
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.08
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available