M138V (p.Met138Val) variant of SFTPB (P07988)
M138V (p.Met138Val) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
M138V (p.Met138Val) variant details
- p.Met138Val
- ExAC rs751412409
- gnomAD rs751412409
- Missense
- Variant Prioritization Score for Impact Estimate 0.0907
- REVEL 0.12
- CADD 0.28
- PolyPhen-2 0.03
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available