M82I (p.Met82Ile) variant of SFTPB (P07988)
M82I (p.Met82Ile) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M82I (p.Met82Ile) variant details
- p.Met82Ile
- gnomAD rs1677689390
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.38
- CADD 21.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available