M67T (p.Met67Thr) variant of SFTPC (Surfactant protein C)
M67T (p.Met67Thr) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M67T (p.Met67Thr) variant details
- p.Met67Thr
- rs2538941541
- ClinGen CA370537010
- ClinVar RCV003443576
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 17.60
- PolyPhen-2 0.98
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available