C112Y (p.Cys112Tyr) variant of SFTPB (P07988)
C112Y (p.Cys112Tyr) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C112Y (p.Cys112Tyr) variant details
- p.Cys112Tyr
- ExAC rs768183539
- gnomAD rs768183539
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.81
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available