V49M (p.Val49Met) variant of SFTPC (Surfactant protein C)
V49M (p.Val49Met) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar and UniProt describe it as likely risk allele in the context of Pulmonary fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- NCI-TCGA TCGA novel
- Likely risk allele
- Pulmonary fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely risk allele (Pulmonary fibrosis)
- UniProt: Likely risk allele
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available