M109V (p.Met109Val) variant of SFTPB (P07988)
M109V (p.Met109Val) 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.
M109V (p.Met109Val) variant details
- p.Met109Val
- cosmic curated COSV60892
- ExAC rs773902434
- gnomAD rs773902434
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.22
- CADD 3.85
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available