A86V (p.Ala86Val) variant of SFTPB (P07988)
A86V (p.Ala86Val) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A86V (p.Ala86Val) variant details
- p.Ala86Val
- gnomAD rs1248908375
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.27
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available