M61I (p.Met61Ile) variant of ATP6V1A (P38606)
M61I (p.Met61Ile) in ATP6V1A (P38606) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M61I (p.Met61Ile) variant details
- p.Met61Ile
- rs1218012061
- ClinGen CA354005280
- ClinVar RCV002635085
- ClinVar RCV004065904
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.14
- 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 9.6e-05)
- 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)