V62M (p.Val62Met) variant of SLC34A3 (Q8N130)
V62M (p.Val62Met) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V62M (p.Val62Met) variant details
- p.Val62Met
- rs754789761
- ClinGen CA5364264
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10074
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- MetaLR 0.03
- MetaSVM -1.03
- CADD 0.62
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00044)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)