L11V (p.Leu11Val) variant of SFTPB (P07988)
L11V (p.Leu11Val) 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.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- Ensembl rs1573480797
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.2e-05)
- Structural context available