L12R (p.Leu12Arg) variant of SFTPB (P07988)
L12R (p.Leu12Arg) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD rs1184443469
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.58
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available